Varaico: Literature-Extracted Genetic Variants

Gene:COL6A2
Variant:p.G699D
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COL6A2

NM_001849.4:p.G699D

Associated Papers

Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.

Aldharee H et al.

Genes, 2024

A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension.

Kutluk MG et al.

Annals of Indian Academy of Neurology, 0

Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.

Kutluk MG et al.

Annals of Indian Academy of Neurology, 0

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